scholarly journals Association of Interleukin-1α Functional Polymorphism with Risk of Chronic Periodontitis in Han Chinese Population

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Xiaowei She ◽  
Hua Xiao ◽  
Shuang Lu ◽  
Lijun Guo
Keyword(s):  
Chronic Periodontitis ◽  
Odds Ratio ◽  
Chinese Population ◽  
Genetic Factors ◽  
Additive Model ◽  
Han Chinese ◽  
Functional Polymorphism ◽  
Chinese Origin ◽  
Interleukin 1Α ◽  
Chinese Subjects

Chronic periodontitis (CP) is a common inflammatory illness affecting a large proportion of humans. Genetic factors are thought to play important roles in its onset and development. A functional polymorphism (rs1800587) in the promoter of the interleukin-1α gene (−889 C/T) has been found to confer risk of CP primarily in Europeans, but the association between this variant and CP in the Chinese population remains less conclusive. In the current study, we aimed to investigate the association between rs1800587 and CP in case-control samples of Han Chinese origin. A total of 1,777 study subjects, including 884 CP patients and 893 healthy controls, were collected. Genotyping of rs1800587 was performed using the SNAPSHOT method, and statistical analyses were conducted to evaluate the association between rs1800587 and CP. In our sample, rs1800587 was significantly associated with the onset of CP (additive model, T-allele vs. C-allele, p  = 0.00359, odds ratio = 1.446, 95% confidence intervals (CIs) = 1.127–1.855; dominant model, (TT + TC) vs. CC, p  = 0.00250, odds ratio = 1.502, 95% CIs = 1.152–1.957; overdominant model, TC vs. (TT + CC), p  = 0.00264, odds ratio = 1.508, 95% CIs = 1.152–1.976). The T-allele and [TC] genotypes of rs1800587 were significantly overrepresented in CP patients compared with controls. Our data suggest that rs1800587 of IL-1α is significantly associated with the risk of CP in Han Chinese subjects, further confirming its possible involvement in the disease.

Abstract TP134: Genome Wide Association Studies in Han Chinese Populations Identify Novel Susceptibility Loci for Specific Ischemic Stroke Subtypes

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Tai-Ming Ko ◽  
Tsong-Hai Lee Lee ◽  
Chien-Hsiun Chen ◽  
Yuan-Tsong Chen ◽  
Jer-Yuarn Wu
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Genetic Factors ◽  
Han Chinese ◽  
Genome Wide Association ◽  
Papillary Thyroid ◽  
Susceptibility Loci ◽  
Han Chinese Population ◽  
Chinese Populations ◽  
Genome Wide

Introduction: Although family history studies in ischemic stroke support that genetic factors may be involved in the pathogenesis of two major subtypes of ischemia stroke: large-artery atherosclerosis (LAA) and small-vessel occlusion (SVO), it is still unclear which particular genetic factors contribute to LAA or SVO. Hypothesis: Because the etiology of ischemic stroke is heterogeneous, we hypothesize that genetic factors may vary by etiologic subtypes or ethnicities. Thus, we aim to identify genetic factors that contribute to LAA or SVO based on two independent Han Chinese populations. Methods: Novel genetic variants that predispose individuals to LAA and SVO were identified by genome-wide association study comprising of 824 individuals (including 444 LAA cases and 380 SVO cases) and 1,727 controls in a Han Chinese population residing in Taiwan. The LAA study was replicated in an independent Han Chinese population comprising of an additional 319 LAA cases and 1,802 controls. Results: In LAA cases, from two independent populations, we identified five single-nucleotide polymorphisms (SNPs), including SNP-1 (P = 3.10 х 10–8), SNP-2 (P = 4.00 х 10–9), SNP-3 (P = 3.57 х 10–8), SNP-4 (P = 1.76 х 10–8), and SNP-5 (P = 2.92 х 10–8), at one novel locus on chromosome 14q13.3 within PTCSC3 (encoding papillary thyroid carcinoma susceptibility candidate 3). In SVO cases, from the discovery stage, we identified two novel candidate susceptibility loci on chromosome 3p25.3 (SNP-6, P = 3.24 х 10–5) and chromosome 14 q31.1 (SNP-7, P = 2.58 х 10–4). Conclusions: For LAA, the newly identified SNPs within PTCSC3 gene were found to have genome-wide statistical significance (P < 5 х 10–8) and were shown to be located in a risk locus correlated with papillary thyroid carcinoma. Moreover, the genetic association between PTCSC3 gene and SVO was not identified, which suggested that PTCSC3 is a specific susceptibility locus for LAA. For SVO, we identified two novel candidate genetic loci which were valuable for replication by an independent population with SVO. In conclusion, our findings provide insights into the genetic basis of LAA and SVO, which may be applicable in the study of the pathogenesis of ischemic stroke and in the development of alternative therapeutic interventions.

scholarly journals An Association Study of Candidate Gene Variants in Chinese Nonsyndromic Cleft Lip with or without Palate Subjects

2020 ◽  
Author(s):  
Zhenmin Niu ◽  
Li Peng ◽  
Jiapei Chen ◽  
Teng Wan ◽  
Dandan Wu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Birth Defect ◽  
Animal Studies ◽  
Cleft Lip ◽  
Genetic Factors ◽  
Susceptibility Loci ◽  
Risk Variants ◽  
Model Animal ◽  
Chinese Subjects ◽  
Six Genes

Abstract Background: Nonsyndromic cleft lip with or without palate is a common birth defect of complex etiology involving the interaction of genetic factors and environmental exposures. Previous reports identified several candidate genes and risk variants of the disease, and their functions were verified by model animal studies. Methods: In order to depict the composition of the orofacial cleft susceptibility loci in Chinese population, we genotyped ten common SNPs of six genes (VAX1, MAFB, PAX7, ABCA4, NTN1 and NOG) in 249 nonsyndromic cleft lip with or without palate individuals, 62 nonsyndromic cleft palate only individuals and 480 controls. Results: Three loci: VAX1 rs7078160, MAFB rs11696257 and NTN1 rs4791774 showed significant relevance with NSCL/P. Carrying both VAX1 rs7078160 and NTN1 rs4791774 further increased the risk, compared with carrying only one of them. Conclusions: This result supported that SNPs of genes VAX1, MAFB and NTN1 are associated with NSCL/P in Chinese subjects.

Association of Common Variants in the IL-33/ST2 Axis with Ischemic Stroke

2020 ◽  
Vol 16 (5) ◽  
pp. 494-501 ◽  
Author(s):  
Shuo Li ◽  
Zhijie Wang ◽  
Xinjing Liu ◽  
Yuanzhe Li ◽  
Changhe Shi ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Cardiovascular Diseases ◽  
Chinese Population ◽  
Additive Model ◽  
Recessive Model ◽  
Han Chinese ◽  
Large Artery ◽  
Confounding Factors ◽  
Common Variants ◽  
Han Chinese Population

Background: Recent studies have reported that the levels of serum interleukin-33 (IL- 33) and its receptor, suppression of tumorigenicity 2 (ST2), are potential biomarkers for susceptibility of cardiovascular diseases. However, the genetic association of the IL-33/ST2 axis with cardiovascular diseases remains controversial. Objective: We aimed to investigate the association between common variants in the IL-33/ST2 axis and ischemic stroke in the Han Chinese population. Methods: We consecutively enrolled 1166 patients with ischemic stroke and 1079 age- and gender- matched controls. Eight single nucleotide polymorphisms (SNPs) within IL-33/ST2 axis were genotyped using the improved Multiple Ligase Detection Reaction platform. We analyzed the association between the tested SNPs and ischemic stroke at both the genotype and haplotype levels. Results: Binary logistic regression analysis indicated that rs10435816 (additive model: odds ratio [OR]=0.72, 95% confidence interval [CI], 0.54-0.95; recessive model: OR=0.72, 95%CI, 0.56- 0.94) was associated with a decreased risk of ischemic stroke after adjustment of confounding factors. Subgroup analysis indicated that rs10435816 (additive model: OR=0.61, 95%CI, 0.41-0.89; recessive model: OR=0.56, 95%CI, 0.40-0.80), rs7025417 (additive model: OR=0.57, 95%CI, 0.39-0.83), rs11792633 (additive model: OR=0.66, 95%CI, 0.46-0.95; recessive model: OR=0.67, 95%CI, 0.49-0.93), and rs7044343 (additive model: OR=0.69, 95%CI, 0.48-0.97; recessive model: OR=0.67, 95%CI, 0.49-0.91) were associated with a decreased risk of large-artery atherosclerosis stroke after adjustment of confounding factors. Conclusion: Our findings suggested an association between common variants in the IL-33/ST2 axis and a decreased risk of ischemic stroke in the Han Chinese population.

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